A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1033706



Internal ID18776239
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:179975769..180379356hg38UCSC Ensembl
Innerchr5:179402769..179806356hg19UCSC Ensembl
Innerchr5:179335375..179738962hg18UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38403588
hg19403588
hg18403588
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3746688
Samples
Known GenesGFPT2, MAPK9, MIR340, RASGEF1C, RNF130
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1033706
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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